西班牙一例伴有女性生殖道畸形的家族性甲状旁腺功能减退、耳聋和肾发育不良（HDR）综合征患者中，编码GATA3转录因子的基因发生新型突变。 - Suppr

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超能文献

Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.

作者信息

Hernández Alba M, Villamar Manuela, Roselló Lidia, Moreno-Pelayo Miguel A, Moreno Felipe, Del Castillo Ignacio

机构信息

Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, Spain.

出版信息

Am J Med Genet A. 2007 Apr 1;143A(7):757-62. doi: 10.1002/ajmg.a.31617.

DOI:10.1002/ajmg.a.31617

PMID:17309062

Abstract

摘要

相似文献

Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.西班牙一例伴有女性生殖道畸形的家族性甲状旁腺功能减退、耳聋和肾发育不良（HDR）综合征患者中，编码GATA3转录因子的基因发生新型突变。

Am J Med Genet A. 2007 Apr 1;143A(7):757-62. doi: 10.1002/ajmg.a.31617.

A new case of HDR syndrome with severe female genital tract malformation: comment on "Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernández et al.一例伴有严重女性生殖道畸形的HDR综合征新病例：评埃尔南德斯等人的“西班牙家族性甲状旁腺功能减退、耳聋和肾发育不良（HDR）综合征伴女性生殖道畸形患者中GATA3转录因子编码基因的新突变”

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